Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development

(2015) Anita Hiippala et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

(2014) Megumi Fukuyama et al.   EUROPACE

Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome

(2013) Hyo Soon An et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome

(2013) K. A. Dufendach et al.   PEDIATRICS

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

(2011) Susan P. Etheridge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

(2011) Jane Gillis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A